ReviewJournal of inherited metabolic disease2013
Gastrointestinal and hepatic manifestations of mitochondrial disorders.
Review in Journal of inherited metabolic disease, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Guideline
- Primary Mitochondrial-Disorders-Associated Nephropathy in Adulthood.Kidney international reports · 2026Review
- Mitochondrial disease management through phytochemical interventions.Molecular and cellular biochemistry · 2025Review
- Hepatic bioenergetics and metabolism in mitochondrial disease: insights from the Ndufs4 KO mouse model.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments.Biomedicines · 2025Review
- Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies.Molecular syndromology · 2024Article
- Disruption of Bioenergetics in the Intestine of Wistar Rats Caused by Hydrogen Sulfide and Thiosulfate: A Potential Mechanism of Chronic Hemorrhagic Diarrhea in Ethylmalonic Encephalopathy.Cell biochemistry and biophysics · 2023Article
- Clinical and biochemical footprints of inherited metabolic disorders. XI. Gastrointestinal symptoms.Molecular genetics and metabolism · 2023Review
- Preventive migraine treatment in mitochondrial diseases: a case report of erenumab efficacy and literature review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- Differential requirements for mitochondrial electron transport chain components in the adult murine liver.eLife · 2022Article
- Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.Orphanet journal of rare diseases · 2020Article
- Inborn errors of metabolism in the differential diagnosis of fatty liver disease.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2020Review
- A NovelFrontiers in neurology · 2019Article
- POLG-related disorders and their neurological manifestations.Nature reviews. Neurology · 2019Review
- Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases.PloS one · 2019Article
- [An interpretation of the expert consensus on standards for the management of patients with primary mitochondrial disease from the Mitochondrial Medicine Society].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- Recent perspectives of pediatric mitochondrial diseases.Experimental and therapeutic medicine · 2018Article
- Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Review
- Gastroesophageal Reflux in Neurologically Impaired Children: What Are the Risk Factors?Gut and liver · 2017Article
- Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.Journal of pediatric gastroenterology and nutrition · 2016Article
Corrections and comments
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Authors and funding
1 author.
Funding
Abstract
Inherited defects of oxidative phosphorylation lead to heterogeneous, often multisystem, mitochondrial diseases. This review highlights those mitochondrial syndromes with prominent gastrointestinal and hepatic symptoms, categorised according to underlying disease mechanism. Mitochondrial encephalopathies with major gastrointestinal involvement include mitochondrial neurogastrointestinal encephalopathy and ethylmalonic encephalopathy, which are each associated with highly specific clinical and metabolic profiles. Mitochondrial hepatopathies are most frequently caused by defects of mitochondrial DNA maintenance and expression. Although mitochondrial disorders are notorious for extreme clinical, biochemical and genetic heterogeneity, there are some pathognomonic clinical and metabolic clues that suggest a specific diagnosis, and these are highlighted. An approach to diagnosis of these complex disorders is presented, together with a genetic classification, including mitochondrial DNA disorders and nuclear-encoded defects of mitochondrial DNA maintenance and translation, OXPHOS complex assembly and mitochondrial membrane lipids. Finally, supportive and experimental therapeutic options for these currently incurable diseases are reviewed, including liver transplantation, allogeneic haematopoietic stem cell transplantation and gene therapy.
Indexed as
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23674168What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.